Incidental Mutation 'R4932:Vill'
| ID |
380651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118890579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 164
(D164V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051386]
[ENSMUST00000074734]
[ENSMUST00000126251]
[ENSMUST00000131647]
[ENSMUST00000136561]
[ENSMUST00000141185]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051386
AA Change: D164V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: D164V
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
14 |
114 |
4.59e-13 |
SMART |
|
GEL
|
135 |
227 |
4.18e-16 |
SMART |
|
GEL
|
252 |
348 |
8.35e-25 |
SMART |
|
GEL
|
391 |
488 |
7.92e-17 |
SMART |
|
GEL
|
508 |
594 |
4.38e-19 |
SMART |
|
GEL
|
613 |
706 |
7.8e-16 |
SMART |
|
VHP
|
824 |
859 |
2.12e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074734
AA Change: D164V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: D164V
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
14 |
114 |
4.59e-13 |
SMART |
|
GEL
|
135 |
227 |
4.18e-16 |
SMART |
|
GEL
|
252 |
348 |
8.35e-25 |
SMART |
|
GEL
|
391 |
488 |
7.92e-17 |
SMART |
|
GEL
|
508 |
594 |
4.38e-19 |
SMART |
|
VHP
|
740 |
775 |
2.12e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126251
|
| SMART Domains |
Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GEL
|
1 |
56 |
9e-21 |
BLAST |
|
GEL
|
63 |
149 |
4.38e-19 |
SMART |
|
GEL
|
168 |
261 |
7.8e-16 |
SMART |
|
VHP
|
357 |
392 |
2.12e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131647
|
| SMART Domains |
Protein: ENSMUSP00000118375
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d4xg_
|
7 |
85 |
6e-23 |
SMART |
|
Blast:GEL
|
14 |
85 |
1e-48 |
BLAST |
|
PDB:2VIL|A
|
15 |
82 |
1e-15 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136561
|
| SMART Domains |
Protein: ENSMUSP00000123393
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
1 |
96 |
2.46e-13 |
SMART |
|
Blast:GEL
|
116 |
140 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141185
|
| SMART Domains |
Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
7 |
104 |
7.92e-17 |
SMART |
|
GEL
|
124 |
210 |
4.38e-19 |
SMART |
|
GEL
|
229 |
322 |
7.8e-16 |
SMART |
|
VHP
|
440 |
475 |
2.12e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153630
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,342 (GRCm39) |
V616E |
possibly damaging |
Het |
| Adam21 |
A |
G |
12: 81,605,692 (GRCm39) |
V690A |
probably benign |
Het |
| Afg3l1 |
A |
T |
8: 124,228,119 (GRCm39) |
T635S |
probably damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,890,700 (GRCm39) |
M390K |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,734,053 (GRCm39) |
|
probably null |
Het |
| Antkmt |
T |
G |
17: 26,010,652 (GRCm39) |
|
probably null |
Het |
| Arhgef3 |
A |
T |
14: 27,106,170 (GRCm39) |
K151N |
probably damaging |
Het |
| Ccr3 |
T |
G |
9: 123,829,043 (GRCm39) |
F126C |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,695,175 (GRCm39) |
D170G |
possibly damaging |
Het |
| Celsr2 |
T |
A |
3: 108,310,074 (GRCm39) |
D1552V |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,675,820 (GRCm39) |
L265F |
probably damaging |
Het |
| Chrna9 |
C |
T |
5: 66,126,533 (GRCm39) |
R92* |
probably null |
Het |
| Cog3 |
A |
T |
14: 75,970,394 (GRCm39) |
V341D |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,073,779 (GRCm39) |
R2072L |
probably damaging |
Het |
| Dbf4 |
G |
T |
5: 8,448,039 (GRCm39) |
H390Q |
probably benign |
Het |
| Dcaf4 |
T |
A |
12: 83,579,078 (GRCm39) |
C166S |
possibly damaging |
Het |
| Dclk3 |
T |
A |
9: 111,297,110 (GRCm39) |
L218Q |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,069,603 (GRCm39) |
W643R |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,674,008 (GRCm39) |
K1091E |
probably damaging |
Het |
| Dis3 |
T |
A |
14: 99,326,340 (GRCm39) |
H415L |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,542,737 (GRCm39) |
I2478F |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Doc2a |
T |
C |
7: 126,447,752 (GRCm39) |
|
probably benign |
Het |
| Dph5 |
A |
T |
3: 115,693,456 (GRCm39) |
M125L |
probably benign |
Het |
| Dst |
A |
T |
1: 34,267,764 (GRCm39) |
T5247S |
possibly damaging |
Het |
| Eno4 |
T |
G |
19: 58,952,889 (GRCm39) |
V477G |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,711 (GRCm39) |
I207V |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,061,352 (GRCm39) |
S4312T |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,843,007 (GRCm39) |
D126G |
probably damaging |
Het |
| Fgfr4 |
A |
G |
13: 55,315,983 (GRCm39) |
T799A |
unknown |
Het |
| Gcn1 |
A |
T |
5: 115,730,203 (GRCm39) |
D839V |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,331,158 (GRCm39) |
V383A |
probably benign |
Het |
| Gpt |
T |
C |
15: 76,583,040 (GRCm39) |
V361A |
probably benign |
Het |
| Hepacam |
G |
A |
9: 37,293,060 (GRCm39) |
C217Y |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,660,151 (GRCm39) |
Y382N |
probably damaging |
Het |
| Htr2a |
T |
A |
14: 74,879,462 (GRCm39) |
N30K |
probably benign |
Het |
| Jhy |
A |
T |
9: 40,872,299 (GRCm39) |
M70K |
possibly damaging |
Het |
| Lrrc19 |
T |
C |
4: 94,529,174 (GRCm39) |
Y36C |
probably damaging |
Het |
| Madcam1 |
C |
T |
10: 79,501,447 (GRCm39) |
Q171* |
probably null |
Het |
| Mcm8 |
G |
A |
2: 132,680,629 (GRCm39) |
M544I |
probably benign |
Het |
| Mdga1 |
C |
T |
17: 30,076,580 (GRCm39) |
G64E |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,446,994 (GRCm39) |
D58G |
probably benign |
Het |
| Ms4a10 |
T |
C |
19: 10,942,132 (GRCm39) |
Y123C |
probably damaging |
Het |
| Ms4a4d |
T |
A |
19: 11,535,296 (GRCm39) |
I198K |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,930,241 (GRCm39) |
D112V |
probably benign |
Het |
| N4bp2l2 |
A |
C |
5: 150,566,606 (GRCm39) |
S567R |
probably benign |
Het |
| Ndufaf2 |
A |
G |
13: 108,295,010 (GRCm39) |
Y32H |
probably damaging |
Het |
| Nup153 |
T |
A |
13: 46,866,213 (GRCm39) |
K182* |
probably null |
Het |
| Or4c100 |
A |
G |
2: 88,356,079 (GRCm39) |
T51A |
probably benign |
Het |
| Or52p2 |
A |
G |
7: 102,237,623 (GRCm39) |
F109S |
probably damaging |
Het |
| Or5p4 |
T |
A |
7: 107,680,781 (GRCm39) |
V260E |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,754,358 (GRCm39) |
S928P |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,496 (GRCm39) |
D295G |
probably benign |
Het |
| P4ha2 |
C |
A |
11: 54,015,846 (GRCm39) |
T411K |
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,333,822 (GRCm39) |
Q865L |
probably benign |
Het |
| Prepl |
G |
T |
17: 85,385,932 (GRCm39) |
T244K |
possibly damaging |
Het |
| Ptpro |
A |
T |
6: 137,388,103 (GRCm39) |
K776* |
probably null |
Het |
| Rc3h2 |
T |
C |
2: 37,279,844 (GRCm39) |
K462E |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,516,940 (GRCm39) |
|
probably null |
Het |
| Serpinb1c |
A |
G |
13: 33,066,147 (GRCm39) |
V266A |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,433,861 (GRCm39) |
N326Y |
probably damaging |
Het |
| Spcs2 |
C |
T |
7: 99,508,038 (GRCm39) |
G16D |
possibly damaging |
Het |
| Spns3 |
T |
C |
11: 72,390,321 (GRCm39) |
D441G |
possibly damaging |
Het |
| Srsf4 |
A |
G |
4: 131,618,556 (GRCm39) |
D49G |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,917,736 (GRCm39) |
C494* |
probably null |
Het |
| Tecpr1 |
A |
T |
5: 144,141,476 (GRCm39) |
Y798N |
probably damaging |
Het |
| Tex56 |
A |
T |
13: 35,116,613 (GRCm39) |
T121S |
possibly damaging |
Het |
| Tmt1a |
T |
A |
15: 100,202,987 (GRCm39) |
F87Y |
probably benign |
Het |
| Trim56 |
C |
T |
5: 137,143,343 (GRCm39) |
E58K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,626,478 (GRCm39) |
D13146E |
probably damaging |
Het |
| Ube2q1 |
A |
T |
3: 89,686,790 (GRCm39) |
K46* |
probably null |
Het |
| Ucn |
G |
T |
5: 31,295,842 (GRCm39) |
T8K |
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,830,870 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
T |
4: 137,343,144 (GRCm39) |
Q430L |
probably benign |
Het |
| Usp48 |
A |
T |
4: 137,343,145 (GRCm39) |
|
probably null |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,751 (GRCm39) |
M806K |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,750,970 (GRCm39) |
Y2256F |
probably damaging |
Het |
| Wsb1 |
A |
G |
11: 79,141,826 (GRCm39) |
S64P |
probably damaging |
Het |
| Zc3h11a |
C |
A |
1: 133,552,350 (GRCm39) |
V586F |
probably benign |
Het |
| Zc3h12d |
A |
G |
10: 7,729,014 (GRCm39) |
D126G |
probably damaging |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp442 |
T |
A |
2: 150,251,635 (GRCm39) |
H89L |
possibly damaging |
Het |
| Zfp82 |
T |
A |
7: 29,756,312 (GRCm39) |
|
probably null |
Het |
| Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
possibly damaging |
Het |
|
| Other mutations in Vill |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Vill
|
APN |
9 |
118,892,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01024:Vill
|
APN |
9 |
118,899,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01934:Vill
|
APN |
9 |
118,895,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Vill
|
APN |
9 |
118,889,466 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02260:Vill
|
APN |
9 |
118,887,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02507:Vill
|
APN |
9 |
118,899,845 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02870:Vill
|
APN |
9 |
118,890,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Vill
|
APN |
9 |
118,895,955 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02835:Vill
|
UTSW |
9 |
118,896,513 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0285:Vill
|
UTSW |
9 |
118,899,895 (GRCm39) |
unclassified |
probably benign |
|
|
R0571:Vill
|
UTSW |
9 |
118,899,701 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1024:Vill
|
UTSW |
9 |
118,895,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Vill
|
UTSW |
9 |
118,899,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1374:Vill
|
UTSW |
9 |
118,890,562 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1400:Vill
|
UTSW |
9 |
118,892,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1551:Vill
|
UTSW |
9 |
118,892,440 (GRCm39) |
missense |
probably benign |
|
|
R1584:Vill
|
UTSW |
9 |
118,894,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Vill
|
UTSW |
9 |
118,899,769 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1721:Vill
|
UTSW |
9 |
118,895,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1946:Vill
|
UTSW |
9 |
118,887,560 (GRCm39) |
missense |
probably benign |
|
|
R2311:Vill
|
UTSW |
9 |
118,894,965 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2392:Vill
|
UTSW |
9 |
118,896,628 (GRCm39) |
unclassified |
probably benign |
|
|
R2509:Vill
|
UTSW |
9 |
118,899,370 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2760:Vill
|
UTSW |
9 |
118,895,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3886:Vill
|
UTSW |
9 |
118,895,782 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3944:Vill
|
UTSW |
9 |
118,897,499 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4245:Vill
|
UTSW |
9 |
118,900,359 (GRCm39) |
unclassified |
probably benign |
|
|
R4246:Vill
|
UTSW |
9 |
118,889,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Vill
|
UTSW |
9 |
118,897,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Vill
|
UTSW |
9 |
118,892,409 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4946:Vill
|
UTSW |
9 |
118,897,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Vill
|
UTSW |
9 |
118,899,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5646:Vill
|
UTSW |
9 |
118,900,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Vill
|
UTSW |
9 |
118,886,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6149:Vill
|
UTSW |
9 |
118,887,482 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6167:Vill
|
UTSW |
9 |
118,895,932 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6318:Vill
|
UTSW |
9 |
118,892,716 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6319:Vill
|
UTSW |
9 |
118,892,716 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6590:Vill
|
UTSW |
9 |
118,890,975 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6690:Vill
|
UTSW |
9 |
118,890,975 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6889:Vill
|
UTSW |
9 |
118,894,950 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7207:Vill
|
UTSW |
9 |
118,900,281 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7353:Vill
|
UTSW |
9 |
118,894,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7398:Vill
|
UTSW |
9 |
118,899,716 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7883:Vill
|
UTSW |
9 |
118,894,589 (GRCm39) |
nonsense |
probably null |
|
|
R8165:Vill
|
UTSW |
9 |
118,895,821 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8281:Vill
|
UTSW |
9 |
118,887,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8380:Vill
|
UTSW |
9 |
118,886,917 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8685:Vill
|
UTSW |
9 |
118,895,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8847:Vill
|
UTSW |
9 |
118,897,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8968:Vill
|
UTSW |
9 |
118,892,671 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9290:Vill
|
UTSW |
9 |
118,890,562 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF005:Vill
|
UTSW |
9 |
118,889,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vill
|
UTSW |
9 |
118,899,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGACATGCCCTGCCTTG -3'
(R):5'- CCTGTATCTAGTAGACGCCCTTTG -3'
Sequencing Primer
(F):5'- ACATGCCCTGCCTTGCTCTC -3'
(R):5'- GCCCTTTGGGTGGAAACAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation